Miranda María Francisca, Faundes Víctor, Alliende María Angélica, Santa María Lorena
Human Genomics and Cytogenetics Laboratory, INTA, University of Chile, Av. El Líbano 5524, Macul, 7830490, Santiago de Chile, Chile.
Orphanet J Rare Dis. 2025 Sep 24;20(1):483. doi: 10.1186/s13023-025-04019-1.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) with comorbid autism and several support requirements. Challenging behaviors are frequently reported as a main concern for parents and caregivers, who also experience increased stress levels. There is little evidence of telehealth parent-implemented intervention (PII) for this population. Our study focused on describing the impact that brief telehealth parent-implemented interventions had on the parental stress levels and challenging behaviors of children with FXS in a Latin American country.
Thirteen caregivers were assessed pre- and postintervention with the Parenting Stress Index short form (PSI-SF), Motivation Assessment Scale (MAS), and Fragile-X-specific adaptation of the Aberrant Behavior Checklist-Community questionnaire (ABC-C). Four telehealth sessions were developed with each participant to guide their intervention with their children with FXS. Statistical analysis was performed using paired t tests or Wilcoxon matched-pairs tests, and Pearson's and Spearman's correlations were used for comparisons. All the statistical analyses were performed using GraphPad Prism v8.3.0, and a two-tailed p value < 0.05 was considered to indicate statistical significance.
PSI-SF (TS=85(52.5-97) vs. TS=55(27.5-90), p = 0.0117) and two MAS subscale frequencies of occurrence (scape=10(4-12.5) vs. scape=3(0.5-8.5), p = 0.0146; tangible =11.69 ± 8.27 vs. tangible=7.154 ± 6.56, p = 0.0146) significantly decreased. ABC-C did not significantly differ. The LSI-SF was positively correlated with three ABC-C subindexes (lethargy/withdrawal s = 0.719, p = 0.007; hyperactivity r = 0.682, p = 0.01; and irritability s = 0.69, p = 0.011).
Telehealth parent-implemented interventions decreased parental stress and challenging behavior perception and increased feelings of parental competence. The PII benefits interventions for children with FXS and is a key aspect to consider in situations where movement, transfer and access to specialized professionals are difficult or interfered with in a particular region or because of a major sanitary alert.
脆性X综合征（FXS）是遗传性智力残疾（ID）合并自闭症及多种支持需求的最常见病因。具有挑战性的行为经常被报告为家长和照顾者的主要担忧，他们的压力水平也有所增加。几乎没有证据表明远程医疗家长实施干预（PII）对该人群有效。我们的研究重点是描述简短的远程医疗家长实施干预对拉丁美洲国家FXS儿童家长压力水平和具有挑战性的行为的影响。
13名照顾者在干预前后分别使用父母压力指数简表（PSI-SF）、动机评估量表（MAS）和异常行为检查表-社区问卷（ABC-C）的脆性X特异性改编版进行评估。为每位参与者开展了四次远程医疗课程，以指导他们对患有FXS的孩子进行干预。使用配对t检验或Wilcoxon配对检验进行统计分析，并使用Pearson和Spearman相关性进行比较。所有统计分析均使用GraphPad Prism v8.3.0进行，双侧p值<0.05被认为具有统计学意义。
PSI-SF（TS=85（52.5 - 97）对TS=55（27.5 - 90），p = 0.0117）以及MAS两个子量表的发生频率（逃避=10（4 - 12.5）对逃避=3（0.5 - 8.5），p = 0.0146；物质奖励=11.69±8.27对物质奖励=7.154±6.56，p = 0.0146）显著降低。ABC-C没有显著差异。LSI-SF与ABC-C的三个子指数呈正相关（嗜睡/退缩s = 0.719，p = 0.007；多动r = 0.682，p = 0.01；易怒s = 0.69，p = 0.011）。
远程医疗家长实施干预降低了家长压力和对具有挑战性行为的认知，并增强了家长的能力感。PII对FXS儿童的干预有益，并且在特定地区因行动、转诊困难或因重大卫生警报而难以接触专业人员的情况下，是一个需要考虑的关键方面。
